Canonical Allele Identifier: CA369168984

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 1371890
• ClinVar RCV Id: RCV001879212
• dbSNP Id: rs761583072
• MyVariant Identifiers: chr7:g.128038573C>A (hg19) ; chr7:g.128398519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398519C>A , CM000669.2:g.128398519C>A	GRCh38
NC_000007.13:g.128038573C>A , CM000669.1:g.128038573C>A	GRCh37
NC_000007.12:g.127825809C>A	NCBI36
NG_009194.1:g.16464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.861G>T	ENSP00000265385.8:p.Lys287Asn
ENST00000484496.6:n.844G>T
ENST00000338791.11:c.969G>T MANE Select	ENSP00000345096.6:p.Lys323Asn
ENST00000648462.1:c.601G>T
ENST00000338791.10:c.969G>T	ENSP00000345096.6:p.Lys323Asn
ENST00000348127.10:c.861G>T	ENSP00000265385.8:p.Lys287Asn
ENST00000354269.9:c.939G>T	ENSP00000346219.5:p.Lys313Asn
ENST00000419067.6:c.870G>T	ENSP00000399400.2:p.Lys290Asn
ENST00000468842.1:n.558G>T
ENST00000469328.5:c.734G>T
ENST00000470772.5:c.711G>T	ENSP00000417296.1:p.Lys237Asn
ENST00000480861.5:c.699G>T	ENSP00000420185.1:p.Lys233Asn
ENST00000484496.5:c.844G>T	ENSP00000418742.1:n.844G>T
ENST00000496200.5:c.639G>T	ENSP00000420803.1:p.Lys213Asn
ENST00000497868.5:c.762G>T	ENSP00000419609.1:p.Lys254Asn
ENST00000626419.2:c.711G>T	ENSP00000486056.1:p.Lys237Asn
NM_000883.3:c.969G>T	NP_000874.2:p.Lys323Asn
NM_001102605.1:c.939G>T	NP_001096075.1:p.Lys313Asn
NM_001142573.1:c.714G>T	NP_001136045.1:p.Lys238Asn
NM_001142574.1:c.699G>T	NP_001136046.1:p.Lys233Asn
NM_001142575.1:c.639G>T	NP_001136047.1:p.Lys213Asn
NM_001142576.1:c.870G>T	NP_001136048.1:p.Lys290Asn
NM_001304521.1:c.762G>T	NP_001291450.1:p.Lys254Asn
NM_183243.2:c.861G>T	NP_899066.1:p.Lys287Asn
XM_005250314.1:c.738G>T	XP_005250371.1:p.Lys246Asn
XM_006715967.1:c.969G>T	XP_006716030.1:p.Lys323Asn
XM_006715968.1:c.939G>T	XP_006716031.1:p.Lys313Asn
XM_006715969.1:c.861G>T	XP_006716032.1:p.Lys287Asn
XM_006715970.2:c.762G>T	XP_006716033.1:p.Lys254Asn
XM_006715971.1:c.738G>T	XP_006716034.1:p.Lys246Asn
XM_011516156.1:c.351G>T	XP_011514458.1:p.Lys117Asn
XM_011516157.1:c.351G>T	XP_011514459.1:p.Lys117Asn
XM_017012172.1:c.738G>T	XP_016867661.1:p.Lys246Asn
XM_017012173.1:c.939G>T	XP_016867662.1:p.Lys313Asn
XM_024446755.1:c.939G>T	XP_024302523.1:p.Lys313Asn
XM_024446756.1:c.861G>T	XP_024302524.1:p.Lys287Asn
XM_024446757.1:c.762G>T	XP_024302525.1:p.Lys254Asn
XM_024446758.1:c.738G>T	XP_024302526.1:p.Lys246Asn
NM_000883.4:c.969G>T MANE Select	NP_000874.2:p.Lys323Asn
NM_001102605.2:c.939G>T	NP_001096075.1:p.Lys313Asn
NM_001142573.2:c.714G>T	NP_001136045.1:p.Lys238Asn
NM_001142574.2:c.699G>T	NP_001136046.1:p.Lys233Asn
NM_001142575.2:c.639G>T	NP_001136047.1:p.Lys213Asn
NM_001142576.2:c.870G>T	NP_001136048.1:p.Lys290Asn
NM_001304521.2:c.762G>T	NP_001291450.1:p.Lys254Asn
NM_183243.3:c.861G>T	NP_899066.1:p.Lys287Asn